Table 1.

Characteristics of 14 patients with GD1 and Severe PAH/HPS

Patient	GBA1 Genotype	Ethnicity (A/O)	Age at diagnosis of GD	Age at splenectomy	Age at diagnosis of Hepato-pulmonary syndrome	Age at diagnosis of Pulmonary HTN	SSI	Age at ERT	Adjuvant therapy-age initiated	PVR (Wood units)	PAP (mmHg)	Outcome	BMPR2 mutationsa	ALK1 mutationsa	Current Age
1	N370S/T3231	O	ND	13	NA	48	13	48	Bosentan, 57	8–10	93/16	Deceased, age 59	NP	NP	Deceased
2a	N370S/84GG	A	5	~5–10	22	32	20	29	Ø	ND	49/16	Resolved	None	None	49
3	N370S/L444P	O	4	7	NA	24	7	16	Prostacyclin, 24	19.2	95/45	Deceased age 26; sepsis	NP	NP	Deceased
4	N370S/L444P	O	5	16	NA	36	8	43	Prostacyclin, 49; Bosentan, 52	ND	61/26, mean 38	R & L sided CHF	NP	NP	61
5	N370S/84GG	ND	2	7	NA	27	14	21	Bosentan, ND	3.4	55/20, mean 32	Much improved	S775N (AGC→AAC) heterozygous	None	38
6	N370S/IVS2+1	A	14	14	NA	36	17	36	Bosentan, 46; Sildenafil, 52	7.1	ND	NYHA 1	None	None	54
7a	N370S/55 b.p. del.	O	3	8	31	35	17	33	Ø	ND	ND	Resolved	None	None	50
8	N370S/L444P	O	5	11	NA	44	8	37	Ø	ND	77/35, mean 51	Much improved	NP	NP	30
9a	N370S/R257Q	O	9	19	ND	63	20	50	Ø	ND	94/32, mean 57	Minimally improved	R937R (AGG→AGA) heterozygous	None	66
10	N370S/R257Q	ND	2	2	NA	39	16	39	Bosentan, ND	ND	Systolic 60–70	NYHA 2–3	NP	NP	57
11	N370S/N370S	ND	2	17	NA	49	ND	49	Prostacyclin, ND	ND	Systolic 130	Minimally improved	NP	NP	67
12	N370S/L444P	O	19	19	NA	33	14	30	Sildenafil, 34; Bosentan, 34	2.8	ND	Much improved	R937R (AGG→AGA) heterozygous	None	41
13	ND	A	3	3	NA	22	ND	22	Prostacyclin, ND	ND	Systolic 85	ND	NP	NP	41
14	N370S/N370S	A	22	30	NA	63	17	53	ND	ND	Systolic 77	CHF, age 71	None	None	72

A Ashkenazi Jewish; O Other, i.e., non-Jewish; NA Not applicable; ND Not determined; NP Not performed; PVR Pulmonary vascular resistance; PAP Pulmonary arterial pressure

^aPatient first presented with HPS

^bPlease see SI for PCR conditions and primer sequences